Q16R (p.Gln16Arg) variant of HFE (Q30201)
Q16R (p.Gln16Arg) in HFE (Q30201) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
Q16R (p.Gln16Arg) variant details
- p.Gln16Arg
- ExAC rs755930448
- gnomAD rs755930448
- Missense
- Variant Prioritization Score for Impact Estimate 0.0713
- REVEL 0.03
- CADD 6.41
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available